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Article

Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree.

Arthritis and rheumatism - 1 Jun 2009

Saulsbury Frank T, Wouters Carine H, Martin Tammy M, Austin Carrie R, Doyle Trudy M, Goodwin Kelly A, Rosé Carlos D

Abstract excerpt

Pediatric granulomatous arthritis (PGA) has been associated with 12 different substitutions in the NOD2 gene thus far. We report a case of PGA in a 6-year-old girl with the NOD2 E383K gene substitution. Genotype analysis of the patient's family members revealed that her affected paternal aunt, as well as her asymptomatic father and 3 younger siblings, were heterozygous for the E383K substitution. The patient's...

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Identifiers

PMID: 19479836
DOI: 10.1002/art.24532

Genes

NOD2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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